FGD1 gene mutations result in faciogenital dysplasia (FGDY, Aarskog-Scott syndrome), an X-linked developmental disorder that adversely affects the formation of multiple skeletal structures. FGD1 maps to human chromosome Xp11.21 and shares a high degree of sequence identity with the FGD2 (6p21.2) and the FGD3 (9q22.31) proteins. FGD1 encodes a guanine nucleotide exchange factor that specifically activates the Rho GTPase Cdc42. FGD2 is present in several diverse tissues during embryogenesis, suggesting a role in embryonic development. FGD3 stimulates fibroblasts to form filopodia, which are Actin microspikes formed upon the stimulation of Cdc42. All FGD family members contain equivalent signaling domains and a conserved structural organization, which strongly suggests that these signaling domains form a canonical core structure for members of the FGD family of RhoGEF proteins. These proteins control essential signals required during embryonic development.

Faciogenital dysplasia 3;
FGD1 family, member 3;
FGD3;
FGD3_HUMAN;
FYVE;
FYVE, RhoGEF and PH domain containing 3;
FYVE, RhoGEF and PH domain containing protein 3;
RhoGEF and PH domain-containing protein 3;
ZFYVE5;
Zinc finger FYVE domain containing protein 5;
Zinc finger FYVE domain-containing protein 5.

Human,Mouse,Rat

WB,IHC,IF,ICC

WB 1:500-2000
IHC 1:100-500
IF 1:100-1:400
ICC 1:100-1:400

79kD

89846

Q5JSP0

https://www.uniprot.org/uniprotkb/Q5JSP0

Cytoplasm. Cytoplasm > cytoskeleton.

KLH conjugated synthetic peptide derived from human FGD3

Rabbit

Polyclonal

IgG

affinity purified by Protein A

Liquid

0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.